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Research Article: A Retrospective Study on the Clinical, Laboratory, and Nutritional Status of Pediatric Epidermolysis Bullosa in a Tertiary Referral Hospital in West Java, Indonesia

Date Published: 2023-06-24

Abstract:
Epidermolysis bullosa (EB) is a rare autosomal genodermatosis disease characterized by the formation of bullae and erosions of the skin and mucous membranes, indicating that the skin and mucosa are brittle and vulnerable to spontaneous mechanical trauma or friction. Mutations of the gene encoding the basement membrane zone (BMZ) protein are linked to its etiopathogenesis. According to the Consensus, there are four primary types of EB: simplex EB (EBS), junctional EB (JEB), dystrophic EB (DEB) (either recessive dystrophic EB [RDEB] and dominant dystrophic EB [DDEB]), and Kindler syndrome (KS).,, Bullae, erosions, and crusts exist in all kinds of EB. Additionally, milia, nail dystrophy, and anonychia may also develop in EB. Extracutaneous involvement occurs in numerous subtypes of EB, particularly in the generalized and severe subtypes. Oropharynx, trachea, esophagus, eyes, hair, and teeth are commonly affected.,

Introduction:
Epidermolysis bullosa (EB) is a rare autosomal genodermatosis disease characterized by the formation of bullae and erosions of the skin and mucous membranes, indicating that the skin and mucosa are brittle and vulnerable to spontaneous mechanical trauma or friction. Mutations of the gene encoding the basement membrane zone (BMZ) protein are linked to its etiopathogenesis. According to the Consensus, there are four primary types of EB: simplex EB (EBS), junctional EB (JEB), dystrophic EB (DEB) (either recessive…

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